ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.*5G>T

dbSNP: rs78587210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001608725 SCV001833116 benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847311 SCV002104725 likely benign Hereditary spastic paraplegia 2021-05-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001608725 SCV005263848 likely benign not provided criteria provided, single submitter not provided

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